Phosphomannomutase 2 (PMM2) converts mannose-6-phospahate to mannose-1-phosphate; the substrate for GDP-mannose, a building block of the glycosylation biosynthetic pathway. Pathogenic variants in the PMM2 gene have been shown to be associated with protein hypoglycosylation causing PMM2-congenital di...
The routine diagnostic pathway for congenital disorders of glycosylation (CDG) relies on carbohydrate deficient transferrin, a test that incompletely captures defects in N linked glycosylation and may yield false negative results even in classical N glycosylation disorders such as PMM2 CDG. To explo...
PMM2-CDG is a rare inborn error of metabolism caused by deficiency of the phosphomannomutase (PMM2) enzyme, which leads to impaired protein glycosylation. While the disorder presents primarily with neurological symptoms, there is limited knowledge about the specific brain-related changes that result...
